Details of Disease | DrugMAP

General Information of Disease (ID: DIS7VNDZ)

Disease Name	Ehlers-Danlos syndrome, musculocontractural type 1
Synonyms	adducted thumb-clubfoot syndrome; EDSMC; Ehlers-Danlos syndrome, type Vib; EDSMC1; Dundar syndrome; adducted thumb, clubfoot, and Progressive Joint and skin laxity syndrome; Ehlers-Danlos syndrome, musculocontractural type, 1; Ehlers-Danlos syndrome, type Vib, formerly; Arthrogryposis, Distal, with peculiar facies and hydronephrosis
Disease Hierarchy	DIS6XBQP: Ehlers-Danlos syndrome, musculocontractural type DIS7VNDZ: Ehlers-Danlos syndrome, musculocontractural type 1

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CHST14	OT3FLH7U	Definitive	Autosomal recessive	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.